Mutagenetix > Incidental Mutation

Incidental Mutation 'R4450:Cldn12'

328915

Institutional Source

Beutler Lab

Gene Symbol

Cldn12

Ensembl Gene

ENSMUSG00000046798

Gene Name

claudin 12

Synonyms

MMRRC Submission

041711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5555015-5564976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5558398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 10 (T10A)

Ref Sequence

ENSEMBL: ENSMUSP00000136988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060947] [ENSMUST00000115445] [ENSMUST00000115446] [ENSMUST00000125110] [ENSMUST00000179804]

AlphaFold

Q9ET43

Predicted Effect

probably damaging
Transcript: ENSMUST00000060947
AA Change: T10A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061928
Gene: ENSMUSG00000046798
AA Change: T10A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115445
AA Change: T10A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111105
Gene: ENSMUSG00000046798
AA Change: T10A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115446
AA Change: T10A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111106
Gene: ENSMUSG00000046798
AA Change: T10A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134931

Predicted Effect

probably damaging
Transcript: ENSMUST00000179804
AA Change: T10A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136988
Gene: ENSMUSG00000046798
AA Change: T10A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198303

Meta Mutation Damage Score

0.1093

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

MGI Phenotype

FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene, along with several other family members, is expressed in the inner ear. The protein encoded by this gene and another family member, claudin 2, are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,976,129 (GRCm39)		noncoding transcript	Het
Acsl6	A	G	11: 54,219,229 (GRCm39)	D278G	probably damaging	Het
Adamdec1	C	T	14: 68,810,568 (GRCm39)	R196Q	probably benign	Het
Akap13	T	A	7: 75,392,508 (GRCm39)	F2450L	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Angel1	A	T	12: 86,768,698 (GRCm39)	Y262N	probably damaging	Het
Arhgef18	A	G	8: 3,487,097 (GRCm39)	E272G	probably damaging	Het
Bpifb6	A	G	2: 153,748,688 (GRCm39)	E228G	possibly damaging	Het
Brca2	T	G	5: 150,459,518 (GRCm39)	D264E	probably damaging	Het
Cdca4	T	C	12: 112,785,278 (GRCm39)	N150S	probably benign	Het
Cep162	T	C	9: 87,107,861 (GRCm39)	S510G	probably damaging	Het
Clip2	C	T	5: 134,531,807 (GRCm39)	G631D	possibly damaging	Het
Col19a1	T	A	1: 24,361,116 (GRCm39)	T625S	probably damaging	Het
Col6a5	C	T	9: 105,781,720 (GRCm39)	G1635D	unknown	Het
Dcp1b	A	G	6: 119,183,437 (GRCm39)	T175A	probably benign	Het
Eln	C	T	5: 134,754,635 (GRCm39)		probably benign	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gm9894	T	A	13: 67,913,199 (GRCm39)		noncoding transcript	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Iqcm	T	C	8: 76,356,394 (GRCm39)	S176P	probably damaging	Het
Klhl42	G	A	6: 146,993,169 (GRCm39)	G47D	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lzts2	A	T	19: 45,012,032 (GRCm39)	K154*	probably null	Het
Map4k3	C	T	17: 80,911,411 (GRCm39)		probably null	Het
Mlc1	A	G	15: 88,847,693 (GRCm39)	F285S	probably benign	Het
Myo5a	T	A	9: 75,074,458 (GRCm39)	M789K	probably benign	Het
Nbeal1	T	A	1: 60,306,933 (GRCm39)	S319T	probably damaging	Het
Nsun4	A	T	4: 115,908,453 (GRCm39)	Y702*	probably null	Het
Or8b52	A	T	9: 38,577,050 (GRCm39)	V30E	probably benign	Het
Or8g34	G	A	9: 39,373,328 (GRCm39)	M200I	probably benign	Het
Osbpl5	T	A	7: 143,248,643 (GRCm39)	T640S	probably benign	Het
Plaat1	C	T	16: 29,046,976 (GRCm39)	T165M	possibly damaging	Het
Rangrf	A	T	11: 68,866,010 (GRCm39)		probably benign	Het
Rnpc3	T	C	3: 113,404,786 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,954,038 (GRCm39)	G1867D	probably damaging	Het
Slc11a1	C	A	1: 74,424,694 (GRCm39)		probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Syt6	A	G	3: 103,492,961 (GRCm39)	H156R	probably benign	Het
Tln2	C	T	9: 67,251,347 (GRCm39)		probably null	Het
Trim58	T	C	11: 58,542,191 (GRCm39)	W384R	probably benign	Het
Wwc2	A	G	8: 48,321,702 (GRCm39)	Y471H	unknown	Het

Other mutations in Cldn12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03323:Cldn12	APN	5	5,558,421 (GRCm39)	missense	probably damaging	1.00
lame	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R1499:Cldn12	UTSW	5	5,557,900 (GRCm39)	missense	probably benign	0.28
R1971:Cldn12	UTSW	5	5,558,137 (GRCm39)	missense	probably benign	0.16
R2350:Cldn12	UTSW	5	5,557,845 (GRCm39)	missense	possibly damaging	0.55
R4665:Cldn12	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R4724:Cldn12	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R4725:Cldn12	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R4728:Cldn12	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R6961:Cldn12	UTSW	5	5,557,707 (GRCm39)	missense	probably damaging	1.00
R7485:Cldn12	UTSW	5	5,558,008 (GRCm39)	missense	probably benign	0.06
R7857:Cldn12	UTSW	5	5,558,209 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGCTTCCATCATACCGGG -3'
(R):5'- TGCACTTGATCTGGGACATATG -3'

Sequencing Primer
(F):5'- ATCATACCGGGCACACTTC -3'
(R):5'- GCTAGGATTGCACTAGCTAGCTC -3'

Posted On

2015-07-21